Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

02/28/2023

Today is Rare Disease Day!

On this occasion we and our partner institutes St. Anna Kinderkrebsforschung, CeMM and Medizinische Universität Wien want to raise awareness and show our commitment to the global effort to fight rare diseases. We want to show our support for affected patients & families, and want to emphasize the importance of research to understand the underlying mechanisms leading to precision medicine and targeted therapy approaches.

A rare disease affects, per definition, less than 1 of 2,000 people. But in total this is a lot: More than 8,000 rare diseases are known up to date, which means 1 in 20 people is affected by a rare disease - in Austria these are about 400,000 people.

We care about rare - do you?

02/07/2023

A team of scientists led by LBI-RUD Co-Director Georg Stary (Medizinische Universität Wien/CeMM) and LBI-RUD Principal Investigator Christoph Bock (CeMM/Medical University of Vienna) has achieved a major breakthrough in understanding granulomas 👏

Diseases involving an accumulation of immune cells in the tissue, known as granulomas, are challenging to treat as their origins are unknown. These granulomas are most frequently located in the lungs and the skin but can also affect other organs. They contribute to several inflammatory systemic disorders, such as sarcoidosis, berylliosis, and rheumatoid arthritis. Between 1 and 35.5 people out of 100,000 are affected by this condition in the world.

For the first time, a team of scientists led by CeMM Adjunct Principal Investigator Georg Stary (Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases) and CeMM Principal Investigator Christoph Bock (Medizinische Universität Wien) has analyzed tissue samples from 12 patients and characterized granulomas in immense detail, providing insights into their composition, structure, and signaling pathways. Their results will pave the way for new therapies to treat granuloma-associated diseases more efficiently.

Read more ➡️ https://bit.ly/3RubKKq

📄 The study “Single-cell and spatial transcriptomics identify aberrant developmental programs driving granuloma formation” was published on 6 February 2023 in the scientific journal Immunity, DOI: 10.1016/j.immuni.2023.01.014 ➡️ https://bit.ly/3Y1wRX3

📸 From L to R: Georg Stary, Anna Redl, Thomas Krausgruber and Christoph Bock (Laura Alvarez / CeMM).

11/21/2022

Clarivate publishes every year the “Highly Cited Researchers” list, which recognizes the most influential researchers, across different scientific fields, with highly-cited papers that rank in the top 1% by citation.

For the fourth time in a row, CeMM Principal Investigator and Medizinische Universität Wien Prof. Christoph Bock has been included in the cross-field category, which highlights the interdisciplinary nature of his work. He is one of the 47 researchers in this year's list who are working in Austria 🇦🇹.

The group of Christoph Bock studies the role of the epigenome in cancer, providing a new perspective for understanding how cancer develops and how it can be diagnosed and treated. They combine both wet-lab and computational methods in order to explore opportunities for epigenetic combination therapies against cancer.

Congratulations to Christoph for being, once again this year, among the world’s most highly-cited scientists!

Check the full list ➡️ https://bit.ly/3gdF2if

Find out more about Christoph Bock’s research ➡️ https://bit.ly/3GyyvcD

📷 Klaus Pichler / CeMM

11/15/2022

11th International Conference on Rare and Undiagnosed Diseases (07. & 08.11.2022)

Hosted by the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), jointly with the Medizinische Universität Wien and the National Institutes for Health (NIH) Undiagnosed Diseases Program, the 11th International Conference on Rare and Undiagnosed Diseases emphasized the unique position of Vienna in the international community that fast-forwards research and medical innovation on rare and undiagnosed diseases to improve therapeutic options for these patients globally.

In cooperation with its prestigious partners - Medizinische Universität Wien, the St. Anna Kinderkrebsforschung , CeMM and the Undiagnosed Diseases Network International (UDNI) - the LBI-RUD brought together world-renowned international experts in the field of rare diseases research who shared the latest findings and progresses made in their fields of expertise and reflected on future approaches how to best bridge the gap between research and application for rare disease patients.

Kaan Boztug and Georg Stary hosted the conference together with William Gahl, head of the Undiagnosed Diseases Program at the NIH and the Undiagnosed Diseases Network International (UDNI). Markus Müller, Rector of the Medical University of Vienna, opened the conference and underlined the importance and relevance of rare and undiagnosed diseases for the Medical University of Vienna, complemented by a molecular medicine perspective on these disorders by Giulio Superti-Furga, Scientific Director of the CeMM.

The program covered a wide range of thematic areas, including scientific presentations by leaders in the fields of immunodeficiencies and hematological diseases, dermatology and gastroenterology neurological diseases and systems to model rare diseases and latest developments of precision medicine approaches to rare diseases. The program on day 1 was concluded with a panel discussion including MedUni Vice Rector Michaela Fritz, William Gahl, Christiane Druml, Helene Ciderroth as well as Cornelia Dechant. Moderated by Marlene Nowotny the discussion shed light on current challenges and future perspectives for rare diseases from a medical and also a patient perspective.

Nearly 300 participants from five continents presented their research projects and discussed their works with their peers in this hybrid event which brought together key stakeholders of the international rare disease community. The Conference Organizing committee wishes to thank all of our local and international experts for chairing the different session, the speakers for their active participation and for sharing interesting insights, and the audience that participated on-site and virtually in this hybrid event.
We will continue to advocate for rare diseases research, diagnosis and therapies and will further strength Vienna as an international connected hotspot in this area to benefit patients in Austria and beyond.

10/17/2022

Join us for the 11th International Conference of the Undiagnosed Diseases Network International on 07-08 November 2022!

The conference will be hosted as a hybrid event. Participation is possible in person in the Van Swieten Saal of the Medical University of Vienna, or online.

The Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases is happy to host this conference together with the Medizinische Universität Wien and the NIH, with support of the partner institutes St. Anna Kinderkrebsforschung and CeMM.

📌 You can register here:
https://lnkd.in/d7hTpMAu

👉 More information on our international top-level speakers and discussion topics can be found here: https://lnkd.in/dYzRZqsy

📣 The deadline for abstract submissions was extended until October 20, 2022. All relevant information can be accessed online here: https://lnkd.in/d9TXbwQT

10/14/2022

Why is studying immune dysregulation important?

Prof.Boztug kicks off the Plenary Session 3 at with a lecture on “Mechanistic Overview of Tregopathies”.

09/28/2022

Congratulations to LBI-RUD Principal Investigator Georg Stary (CeMM / Medizinische Universität Wien) and first author Johanna Strobl (Medizinische Universität Wien), who showed that tick saliva inhibits the skin’s defence function, thereby increasing the risk of diseases such as tick-borne encephalitis (TBE) or Lyme disease. The study was recently published in the Journal of Clinical Investigation.

Tick feeding modulates the human skin immune landscape to facilitate tick-borne pathogen transmission

Johanna Strobl, Verena Mündler, Sophie Müller, Anna Gindl, Sara Berent, Anna-Margarita Schötta, Lisa Kleissl, Clement Staud, Anna Redl, Luisa Unterluggauer, Ana Elena Aguilar González, Sophie
Weninger, Denise Atzmüller, Romana Klasinc, Gerold Stanek, Mateusz Markowicz, Hannes Stockinger, Georg Stary
https://www.jci.org/articles/view/161188

Until now, scientists could not fully understand why ticks were particularly dangerous disease vectors. A research team led by Johanna Strobl (MedUni Vienna) and CeMM Adjunct Principal Investigator Georg Stary (Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Co-Director and Associate Professor at Medizinische Universität Wien) have demonstrated for the first time how tick saliva can weaken the skin’s defense function, which increases the risk of contracting diseases such as tick-borne encephalitis (TBE) or Lyme disease.

Read the press release ➡️ https://bit.ly/3xVTMrG

The study “Tick feeding modulates the human skin immune landscape to facilitate tick-borne pathogen transmission” was published in the Journal of Clinical Investigation on September 28, 2022. DOI: https://doi.org/10.1172/JCI161188

📸 Laura Alvarez / CeMM

09/21/2022

Yesterday, we participated in the erste bank vienna night run along the historic Vienna ring road. The Vienna Night Run is one of our favorite running events in Vienna, which gives us a great opportunity to represent our institute and raise awareness for rare and undiagnosed diseases.

We care for rare!

08/02/2022

The extracellular matrix (ECM) is the tissue in the brain that surrounds cells, providing stability and enabling proper brain function, including long-term memory storage. Few cellular receptors for ECM signaling had been identified, but no association with a congenital neurological disease was made.

For the first time, researchers from Vanja Nagy's group from the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, CeMM and the Medizinische Universität Wien, and Josef Penninger's group from the University of British Columbia and the Institute of Molecular Biotechnology, have discovered a novel function of the FIBCD1 gene in the brain as a receptor of ECM 'sugar' molecules, and how mutations in FIBCD1 could have a potential pivotal role in the development of neurological disorders such as autism, ADHA, schizophrenia and other neurodegenerative disorders including Alzheimer's.

Read the full press release ➡️ https://bit.ly/3cYRpgm

The Study “FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder“ was published in EMBO Molecular Medicine on August 2, 2022, DOI: 10.15252/emmm.202215829 ➡️ https://www.embopress.org/doi/10.15252/emmm.202215829

📷 Last author Vanja Nagy and first authors Christopher Fell and Astrid Hagelkruys. (© Laura Alvarez/CeMM).

07/08/2022

Congratulations to Christopher Fell, PhD student in the group of LBI-RUD Principal Investigator & CeMM Adjunct PI Dr. Vanja Nagy, for his successful PhD defense today!

We wish you good luck for your future endeavors!

Photo credit: Laura Alvarez/CeMM

05/13/2022

Viktoriia Kartysh, PhD student in the group of Dr. Vanja Nagy, has been awarded a prestigious DOC fellowship of the Österreichische Akademie der Wissenschaften

The topic of Viktoriia’s PhD thesis is aiming to identify common molecular pathways of different monogenic forms of intellectual disabilities (ID) to ultimately harness those discoveries for aiding in identification of novel ID-causative genes as well as development of targeted therapeutic approaches. Viktoriia will identify convergent signalling pathways within a selected ID-causing gene network using single-cell transcriptomics of a CRISPR-Cas9 based screen in iPSC-derived neurons.

Congratulations to Viktoriia from the entire Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

02/28/2022

On the occasion of today’s Rare Disease Day, the LBI-RUD is joining a virtual rare disease day run (Laufen macht glücklich) to help raising awareness for rare diseases, thereby donating to 10 different organizations to support patients and their families. A big thank you to all our runners!

We care about rare – do you?

(All our members did their virtual run individually and/or in compliance with the current COVID-19 regulations)

For further information, please follow this link: https://laufenmachtgluecklich.de/laeufe/2022/rare-diseases-run

02/28/2022

Together against rare diseases! 💪

In a joint effort with our partners Medizinische Universität Wien, St. Anna Kinderkrebsforschung , and CeMM , we want to raise awareness for rare and undiagnosed diseases, show our support for affected patients & families, and want to emphasize the importance of research to understand the underlying mechanisms leading to precision medicine and targeted therapy approaches.

A rare disease affects, per definition, less than 1 in 2,000 people. But in total this is a lot, as 6,000 - 8,000 rare diseases are known to date, affecting approx. 400,000 people in Austria.

(Video: CCRI)

01/23/2022

12/24/2021

12/23/2021

👉 Der Sonnengott im Zentrum moderner Immunschwächeforschung. 🦠 Mehr Informationen >>> https://bit.ly/3pomU7m

📌 Wissenschaftler:innen 👨‍🔬🧑‍🔬 der St. Anna Kinderkrebsforschung bringen Mutationen im Transkriptionsfaktor Helios – einem speziellen Eiweiß, das die Genexpression steuert – mit einer neuartigen Krankheit in Verbindung, die durch Immunschwäche und Immunfehlregulation gekennzeichnet ist.

📌 Um den Mechanismus zu verstehen, durch den Helios diese Krankheiten verursacht, untersuchten die Erstautoren Tala Shahin und Daniel Mayr gemeinsam mit Kolleg:innen die zugrunde liegenden Immundefekte mit modernsten biochemischen Methoden. Die Wissenschaftlerinnen und Wissenschaftler fanden heraus, dass mutierte Helios-Varianten ein gestörtes Netzwerk von Interaktionspartnern aufwiesen.

📌„Je mehr Patientinnen und Patienten wir mit diesen Mutationen identifizieren, desto besser können wir verstehen, welche Rolle Helios für die Immunität und das Immungleichgewicht spielt,“ erklärt Kaan Boztug, leitender und korrespondierender Autor der Studie und wissenschaftlicher Direktor des St. Anna CCRI.

📌 Da Patient:innen mit Immunschwäche ein erhöhtes Risiko für das Entstehen einer bösartigen Erkrankung haben, leistet diese Studie einen essenziellen Beitrag zur pädiatrischen Krebsforschung.

12/10/2021

Congratulations to Julia Pazmandi, PhD student in the group of CeMM Adjunct PI & LBI-RUD Director Kaan Boztug and CeMM Adjunct PI Jörg Menche, for her successful PhD defense today!

Julia Pazmandi, in CeMM Adjunct Principal Investigators Kaan Boztug's (Director at Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and Scientific Director at St. Anna Kinderkrebsforschung) and Jörg Menche's (Max Perutz Labs group leader and Professor at Universität Wien) groups, has successfully defended her PhD thesis entitled "Systems biology approaches for the phenotypic and network-based characterization of inborn errors of immunity".

Congratulations Julia from your colleagues and friends at CeMM! 🎓 👏 🎉



📷 Laura Alvarez / CeMM

12/09/2021

We congratulate gladly Kaan Boztug, CeMM Adjunct Principal Investigator, Director at Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and Scientific Director at St. Anna Kinderkrebsforschung, for becoming full professor in the subject field Paediatrics and Inflammation Research at the Medizinische Universität Wien!

Kaan Boztug has played a leading role in the description and molecular characterisation of more than 15 previously unknown diseases, which has paved the way for future personalised therapeutic approaches. As a physician scientist, he has always combined research with the care and treatment of patients with rare and undiagnosed haematopoietic and immunological diseases.

Find out more ➡️ https://cemm.at/news/n/kaan-boztug-takes-over-professorship-in-the-subject-field-paediatrics-and-inflammation-research

📷 Klaus Pichler / CeMM